Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_016407.5
p.M171V
c.511A>G
NM_016407.5
p.C37G
c.109T>G
NM_016407.5
p.C37W
c.111T>G
NM_016407.5
p.R45I
c.134G>T
NM_016407.5
p.L56fs
c.166_167fs
NM_016407.5
p.L114I
c.340C>A
NM_016407.5
p.R131*
c.391C>T
NM_016407.5
p.H158R
c.473A>G
NM_016407.5
p.E166K
c.496G>A
NM_016407.5
p.V181M
c.541G>A
NM_016407.5
p.K201E
c.601A>G
NM_016407.5
p.M249I
c.747G>A